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Article

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

American journal of human genetics - 6 Mar 2014

van Karnebeek Clara D, Sly William S, Ross Colin J, Salvarinova Ramona, Yaplito-Lee Joy, Santra Saikat, Shyr Casper, Horvath Gabriella A, Eydoux Patrice, Lehman Anna M, Bernard Virginie, Newlove Theresa, Ukpeh Henry, Chakrapani Anupam, Preece Mary Anne, Ball Sarah, Pitt James, Vallance Hilary D, Coulter-Mackie Marion, Nguyen Hien, Zhang Lin-Hua, Bhavsar Amit P, Sinclair Graham, Waheed Abdul, Wasserman Wyeth W, Stockler-Ipsiroglu Sylvia

Abstract excerpt

Four children in three unrelated families (one consanguineous) presented with lethargy, hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period and early childhood. We identified and validated three different CA5A alterations, including a homozygous missense mutation...

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Identifiers

PMID: 24530203
DOI: 10.1016/j.ajhg.2014.01.006
PMCID: PMC3951944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24530203-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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